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Euchromatic 16p+ heteromorphism: first report in North America
S M Jalal1, N R Schneider, M K Kukolich
1Cytogenetics Laboratory, Texas Genetic Screening & Counseling Service, Denton 76201.
American Journal of Medical Genetics
|December 1, 1990
Summary
A novel euchromatic variant (16p+) on chromosome 16 was identified in two infants. This genetic finding, present in some family members, requires further study for its clinical and genetic significance.
Area of Science:
- Human Genetics
- Clinical Diagnostics
- Cytogenetics
Background:
- A heteromorphism of the short arm of chromosome 16 (16p+) was observed in two unrelated infants.
- This variant presents as an enlarged short arm, approximately one-third longer than normal, visible via G banding.